Counseling Couples at Risk of Having a Child with Homozygous Familial Hypercholesterolemia – Clinical Experience and Recommendations

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant genetic disorder with a prevalence of approximately 1 in 3001, characterized by elevated low-density lipoprotein cholesterol (LDL-C) causing accelerated atherosclerosis and increased risk of premature cardiovascular disease (CVD). Early detection and initiation of lipid-lowering therapy (LLT) are crucial to negate this elevated risk.2,3 HeFH is caused by a pathogenic variant in genes encoding proteins involved in cholesterol metabolism (LDLR, APOB or PCSK9).

Source: Journal of Clinical Lipidology - December 23, 2022 Category: Lipidology Authors: Tycho R. Tromp, M. Doortje Reijman, Albert Wiegman, G. Kees Hovingh, Joep C. Defesche, Merel C. van Maarle, Inge B. Mathijssen Tags: Brief Communication Source Type: research